(1)H-NMR protocol for rapid diagnosis of purine and pyrimidine metabolic disorders in urine.

Purine and pyrimidine disorders are often difficult to diagnose. Here, we present a (1)H-NMR analysis protocol for the quantification of purines and pyrimidines in urine to diagnose associated disorders. We describe steps for pH adjustment, sample preparation, and (1)H-NMR analysis and data analysis. The use of (1)H-NMR requires a relatively small sample volume (1 mL) and minimal sample preparation. Analysis time produces accurate and reproducible data within 2 h.